| Disease Information | ||||||
|---|---|---|---|---|---|---|
| Disease Name | Gene Name | Type | UMLS | Association Type | Score | Source |
| Neutropenia, Severe Congenital, Autosomal Recessive 3 | HAX1 | phenotype | C1853118 | Biomarker | 0.8 | orphanet , disgenet |
| Neutropenia, Severe Congenital, Autosomal Recessive 3 | HAX1 | phenotype | C1853118 | GermlineCausalMutation | 0.8 | orphanet , disgenet |
| Neutropenia, Severe Congenital, Autosomal Recessive 3 | HAX1 | phenotype | C1853118 | GeneticVariation | 0.8 | orphanet , disgenet |
| Neutropenia, Severe Congenital, Autosomal Recessive 3 | HAX1 | phenotype | C1853118 | CausalMutation | 0.8 | orphanet , disgenet |
| Neutropenia, Severe Congenital, Autosomal Recessive 3 | VPS45 | phenotype | C1853118 | GeneticVariation | 0.34 | orphanet , disgenet |
| Neutropenia, Severe Congenital, Autosomal Recessive 3 | VPS45 | phenotype | C1853118 | Biomarker | 0.34 | orphanet , disgenet |
| Neutropenia, Severe Congenital, Autosomal Recessive 3 | DDX41 | phenotype | C1853118 | Biomarker | 0.3 | disgenet |
| Neutropenia, Severe Congenital, Autosomal Recessive 3 | GFI1 | phenotype | C1853118 | Biomarker | 0.27 | orphanet , disgenet |
| Neutropenia, Severe Congenital, Autosomal Recessive 3 | GFI1 | phenotype | C1853118 | GeneticVariation | 0.27 | orphanet , disgenet |
| Neutropenia, Severe Congenital, Autosomal Recessive 3 | CSF3R | phenotype | C1853118 | CausalMutation | 0.2 | orphanet , disgenet |
| Neutropenia, Severe Congenital, Autosomal Recessive 3 | CSF3R | phenotype | C1853118 | Biomarker | 0.2 | orphanet , disgenet |
| Neutropenia, Severe Congenital, Autosomal Recessive 3 | CSF3R | phenotype | C1853118 | GeneticVariation | 0.2 | orphanet , disgenet |
| Neutropenia, Severe Congenital, Autosomal Recessive 3 | CSF3R | phenotype | C1853118 | AlteredExpression | 0.2 | orphanet , disgenet |
| Neutropenia, Severe Congenital, Autosomal Recessive 3 | JAGN1 | phenotype | C1853118 | GeneticVariation | 0.15 | orphanet , disgenet |
| Neutropenia, Severe Congenital, Autosomal Recessive 3 | JAGN1 | phenotype | C1853118 | Biomarker | 0.15 | orphanet , disgenet |
| Neutropenia, Severe Congenital, Autosomal Recessive 3 | JAGN1 | phenotype | C1853118 | CausalMutation | 0.15 | orphanet , disgenet |
| Neutropenia, Severe Congenital, Autosomal Recessive 3 | CSF3 | phenotype | C1853118 | AlteredExpression | 0.1 | disgenet |
| Neutropenia, Severe Congenital, Autosomal Recessive 3 | CSF3 | phenotype | C1853118 | Biomarker | 0.1 | disgenet |
| Neutropenia, Severe Congenital, Autosomal Recessive 3 | CSF3 | phenotype | C1853118 | GeneticVariation | 0.1 | disgenet |
| Neutropenia, Severe Congenital, Autosomal Recessive 3 | ELANE | phenotype | C1853118 | Biomarker | 0.1 | orphanet , disgenet |
| Neutropenia, Severe Congenital, Autosomal Recessive 3 | G6PC3 | phenotype | C1853118 | GeneticVariation | 0.1 | orphanet , disgenet |
| Neutropenia, Severe Congenital, Autosomal Recessive 3 | ELANE | phenotype | C1853118 | AlteredExpression | 0.1 | orphanet , disgenet |
| Neutropenia, Severe Congenital, Autosomal Recessive 3 | ELANE | phenotype | C1853118 | GeneticVariation | 0.1 | orphanet , disgenet |
| Neutropenia, Severe Congenital, Autosomal Recessive 3 | G6PC3 | phenotype | C1853118 | Biomarker | 0.1 | orphanet , disgenet |
| Neutropenia, Severe Congenital, Autosomal Recessive 3 | CD34 | phenotype | C1853118 | Biomarker | 0.06 | disgenet |
| Neutropenia, Severe Congenital, Autosomal Recessive 3 | LEF1 | phenotype | C1853118 | Biomarker | 0.05 | disgenet |
| Neutropenia, Severe Congenital, Autosomal Recessive 3 | LEF1 | phenotype | C1853118 | GeneticVariation | 0.05 | disgenet |
| Neutropenia, Severe Congenital, Autosomal Recessive 3 | LEF1 | phenotype | C1853118 | AlteredExpression | 0.05 | disgenet |
| Neutropenia, Severe Congenital, Autosomal Recessive 3 | STAT5B | phenotype | C1853118 | Biomarker | 0.04 | disgenet |
| Neutropenia, Severe Congenital, Autosomal Recessive 3 | STAT5B | phenotype | C1853118 | AlteredExpression | 0.04 | disgenet |
| Neutropenia, Severe Congenital, Autosomal Recessive 3 | G6PC | phenotype | C1853118 | AlteredExpression | 0.04 | disgenet |
| Neutropenia, Severe Congenital, Autosomal Recessive 3 | G6PC | phenotype | C1853118 | GeneticVariation | 0.04 | disgenet |
| Neutropenia, Severe Congenital, Autosomal Recessive 3 | G6PC | phenotype | C1853118 | Biomarker | 0.04 | disgenet |
| Neutropenia, Severe Congenital, Autosomal Recessive 3 | STAT5A | phenotype | C1853118 | Biomarker | 0.03 | disgenet |
| Neutropenia, Severe Congenital, Autosomal Recessive 3 | STAT5A | phenotype | C1853118 | AlteredExpression | 0.03 | disgenet |
| Neutropenia, Severe Congenital, Autosomal Recessive 3 | RPS19 | phenotype | C1853118 | Biomarker | 0.03 | disgenet |
| Neutropenia, Severe Congenital, Autosomal Recessive 3 | GATA2 | phenotype | C1853118 | Biomarker | 0.03 | disgenet |
| Neutropenia, Severe Congenital, Autosomal Recessive 3 | CSF1R | phenotype | C1853118 | Biomarker | 0.03 | disgenet |
| Neutropenia, Severe Congenital, Autosomal Recessive 3 | CSF1R | phenotype | C1853118 | AlteredExpression | 0.03 | disgenet |
| Neutropenia, Severe Congenital, Autosomal Recessive 3 | GATA2 | phenotype | C1853118 | GeneticVariation | 0.03 | disgenet |
| Neutropenia, Severe Congenital, Autosomal Recessive 3 | CSF1R | phenotype | C1853118 | GeneticVariation | 0.03 | disgenet |
| Neutropenia, Severe Congenital, Autosomal Recessive 3 | CSF2 | phenotype | C1853118 | GeneticVariation | 0.02 | disgenet |
| Neutropenia, Severe Congenital, Autosomal Recessive 3 | CDKN2A | phenotype | C1853118 | GeneticVariation | 0.02 | disgenet |
| Neutropenia, Severe Congenital, Autosomal Recessive 3 | CSF2 | phenotype | C1853118 | AlteredExpression | 0.02 | disgenet |
| Neutropenia, Severe Congenital, Autosomal Recessive 3 | CAMP | phenotype | C1853118 | Biomarker | 0.02 | disgenet |
| Neutropenia, Severe Congenital, Autosomal Recessive 3 | WAS | phenotype | C1853118 | GeneticVariation | 0.02 | disgenet |
| Neutropenia, Severe Congenital, Autosomal Recessive 3 | HCLS1 | phenotype | C1853118 | GeneticVariation | 0.02 | disgenet |
| Neutropenia, Severe Congenital, Autosomal Recessive 3 | SUB1 | phenotype | C1853118 | Biomarker | 0.02 | disgenet |
| Neutropenia, Severe Congenital, Autosomal Recessive 3 | SUB1 | phenotype | C1853118 | GeneticVariation | 0.02 | disgenet |
| Neutropenia, Severe Congenital, Autosomal Recessive 3 | LAMTOR2 | phenotype | C1853118 | Biomarker | 0.02 | disgenet |
| Neutropenia, Severe Congenital, Autosomal Recessive 3 | CAMP | phenotype | C1853118 | AlteredExpression | 0.02 | disgenet |
| Neutropenia, Severe Congenital, Autosomal Recessive 3 | H3P8 | phenotype | C1853118 | GeneticVariation | 0.02 | disgenet |
| Neutropenia, Severe Congenital, Autosomal Recessive 3 | RPP14 | phenotype | C1853118 | GeneticVariation | 0.02 | disgenet |
| Neutropenia, Severe Congenital, Autosomal Recessive 3 | CDKN2A | phenotype | C1853118 | Biomarker | 0.02 | disgenet |
| Neutropenia, Severe Congenital, Autosomal Recessive 3 | S100A9 | phenotype | C1853118 | Biomarker | 0.02 | disgenet |
| Neutropenia, Severe Congenital, Autosomal Recessive 3 | H3P8 | phenotype | C1853118 | Biomarker | 0.02 | disgenet |
| Neutropenia, Severe Congenital, Autosomal Recessive 3 | RPP14 | phenotype | C1853118 | Biomarker | 0.02 | disgenet |
| Neutropenia, Severe Congenital, Autosomal Recessive 3 | S100A9 | phenotype | C1853118 | GeneticVariation | 0.02 | disgenet |
| Neutropenia, Severe Congenital, Autosomal Recessive 3 | SF3B6 | phenotype | C1853118 | Biomarker | 0.02 | disgenet |
| Neutropenia, Severe Congenital, Autosomal Recessive 3 | SRI | phenotype | C1853118 | Biomarker | 0.02 | disgenet |
| Neutropenia, Severe Congenital, Autosomal Recessive 3 | AKT1 | phenotype | C1853118 | AlteredExpression | 0.02 | disgenet |
| Neutropenia, Severe Congenital, Autosomal Recessive 3 | CDK2AP2 | phenotype | C1853118 | Biomarker | 0.02 | disgenet |
| Neutropenia, Severe Congenital, Autosomal Recessive 3 | LAMTOR2 | phenotype | C1853118 | GeneticVariation | 0.02 | disgenet |
| Neutropenia, Severe Congenital, Autosomal Recessive 3 | WAS | phenotype | C1853118 | AlteredExpression | 0.02 | disgenet |
| Neutropenia, Severe Congenital, Autosomal Recessive 3 | AKT1 | phenotype | C1853118 | Biomarker | 0.02 | disgenet |
| Neutropenia, Severe Congenital, Autosomal Recessive 3 | CDK2AP2 | phenotype | C1853118 | GeneticVariation | 0.02 | disgenet |
| Neutropenia, Severe Congenital, Autosomal Recessive 3 | TCIRG1 | phenotype | C1853118 | Biomarker | 0.02 | orphanet , disgenet |
| Neutropenia, Severe Congenital, Autosomal Recessive 3 | TCIRG1 | phenotype | C1853118 | GeneticVariation | 0.02 | orphanet , disgenet |
| Neutropenia, Severe Congenital, Autosomal Recessive 3 | SF3B6 | phenotype | C1853118 | GeneticVariation | 0.02 | disgenet |
| Neutropenia, Severe Congenital, Autosomal Recessive 3 | ARHGDIB | phenotype | C1853118 | PosttranslationalModification | 0.01 | disgenet |
| Neutropenia, Severe Congenital, Autosomal Recessive 3 | KIT | phenotype | C1853118 | Biomarker | 0.01 | disgenet |
| Neutropenia, Severe Congenital, Autosomal Recessive 3 | ATP2A2 | phenotype | C1853118 | Biomarker | 0.01 | disgenet |
| Neutropenia, Severe Congenital, Autosomal Recessive 3 | CHD2 | phenotype | C1853118 | GeneticVariation | 0.01 | disgenet |
| Neutropenia, Severe Congenital, Autosomal Recessive 3 | RUNX1 | phenotype | C1853118 | GeneticVariation | 0.01 | disgenet |
| Neutropenia, Severe Congenital, Autosomal Recessive 3 | ARHGDIA | phenotype | C1853118 | PosttranslationalModification | 0.01 | disgenet |
| Neutropenia, Severe Congenital, Autosomal Recessive 3 | HOXB8 | phenotype | C1853118 | GeneticVariation | 0.01 | disgenet |
| Neutropenia, Severe Congenital, Autosomal Recessive 3 | IL1A | phenotype | C1853118 | Biomarker | 0.01 | disgenet |
| Neutropenia, Severe Congenital, Autosomal Recessive 3 | BCL2 | phenotype | C1853118 | Biomarker | 0.01 | disgenet |
| Neutropenia, Severe Congenital, Autosomal Recessive 3 | HUWE1 | phenotype | C1853118 | GeneticVariation | 0.01 | disgenet |
| Neutropenia, Severe Congenital, Autosomal Recessive 3 | CXCR2 | phenotype | C1853118 | GeneticVariation | 0.01 | orphanet , disgenet |
| Neutropenia, Severe Congenital, Autosomal Recessive 3 | TP53 | phenotype | C1853118 | GeneticVariation | 0.01 | disgenet |
| Neutropenia, Severe Congenital, Autosomal Recessive 3 | WNT3A | phenotype | C1853118 | AlteredExpression | 0.01 | disgenet |
| Neutropenia, Severe Congenital, Autosomal Recessive 3 | PTPN11 | phenotype | C1853118 | Biomarker | 0.01 | disgenet |
| Neutropenia, Severe Congenital, Autosomal Recessive 3 | LTF | phenotype | C1853118 | GeneticVariation | 0.01 | disgenet |
| Neutropenia, Severe Congenital, Autosomal Recessive 3 | DECR1 | phenotype | C1853118 | GeneticVariation | 0.01 | disgenet |
| Neutropenia, Severe Congenital, Autosomal Recessive 3 | CTNNB1 | phenotype | C1853118 | AlteredExpression | 0.01 | disgenet |
| Neutropenia, Severe Congenital, Autosomal Recessive 3 | IL3 | phenotype | C1853118 | GeneticVariation | 0.01 | disgenet |
| Neutropenia, Severe Congenital, Autosomal Recessive 3 | SCN1A | phenotype | C1853118 | GeneticVariation | 0.01 | disgenet |
| Neutropenia, Severe Congenital, Autosomal Recessive 3 | IL1B | phenotype | C1853118 | Biomarker | 0.01 | disgenet |
| Neutropenia, Severe Congenital, Autosomal Recessive 3 | CLPB | phenotype | C1853118 | Biomarker | 0.01 | orphanet , disgenet |
| Neutropenia, Severe Congenital, Autosomal Recessive 3 | CD40LG | phenotype | C1853118 | GeneticVariation | 0.01 | disgenet |
| Neutropenia, Severe Congenital, Autosomal Recessive 3 | KAT6A | phenotype | C1853118 | GeneticVariation | 0.01 | disgenet |
| Neutropenia, Severe Congenital, Autosomal Recessive 3 | RUNX1T1 | phenotype | C1853118 | GeneticVariation | 0.01 | disgenet |
| Neutropenia, Severe Congenital, Autosomal Recessive 3 | PTPN6 | phenotype | C1853118 | Biomarker | 0.01 | disgenet |
| Neutropenia, Severe Congenital, Autosomal Recessive 3 | NR0B2 | phenotype | C1853118 | Biomarker | 0.01 | disgenet |
| Neutropenia, Severe Congenital, Autosomal Recessive 3 | CD33 | phenotype | C1853118 | Biomarker | 0.01 | disgenet |
| Neutropenia, Severe Congenital, Autosomal Recessive 3 | NAMPT | phenotype | C1853118 | Biomarker | 0.01 | disgenet |
| Neutropenia, Severe Congenital, Autosomal Recessive 3 | SLC37A4 | phenotype | C1853118 | GeneticVariation | 0.01 | disgenet |
| Neutropenia, Severe Congenital, Autosomal Recessive 3 | SLPI | phenotype | C1853118 | Biomarker | 0.01 | disgenet |
| Neutropenia, Severe Congenital, Autosomal Recessive 3 | VPS13B | phenotype | C1853118 | Biomarker | 0.01 | disgenet |
| Neutropenia, Severe Congenital, Autosomal Recessive 3 | LCN2 | phenotype | C1853118 | AlteredExpression | 0.01 | disgenet |
| Neutropenia, Severe Congenital, Autosomal Recessive 3 | RAC2 | phenotype | C1853118 | Biomarker | 0.01 | disgenet |
| Neutropenia, Severe Congenital, Autosomal Recessive 3 | CEBPB | phenotype | C1853118 | Biomarker | 0.01 | disgenet |
| Neutropenia, Severe Congenital, Autosomal Recessive 3 | SRP54 | NA | C1853118 | NA | NA | orphanet |
| Neutropenia, Severe Congenital, Autosomal Recessive 3 | RBSN | NA | C1853118 | NA | NA | orphanet |
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